This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: KCNQ2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004509.2:p.[Pro624_Phe631delinsArgGlnArgProArgProThrLeu;Ala633Pro;Glu635_Asp653delinsSerArgSerArgArgArgArgThrThrAlaArgLysThrAlaGlySerMetSerThr]
CA645608744
NM_004518.5:c.1871del